Results 91 to 100 of about 21,804 (172)

Identification of small molecules that enhance aminoglycoside-mediated suppression of <i>CFTR</i> and <i>NF1</i> nonsense mutations. [PDF]

Mol Ther Oncol
Sammons J, Chen J, Thrasher K, Fu L, Du M, Wen H, Bostwick JR, Vinson P, Moukha-Chafiq O, Augelli-Szafran C, Keeling KM, Wallis D, Kesterson RA, Rowe SM, Bedwell DM.   +14 more
europepmc   +1 more source

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas. [PDF]

PLoS One
Li H, Pemov A, Allaway R, Muir DF, Chang LJ, Banerjee J, Scott AJ, Nagy JMW, Liu J, Carrió M, Mazuelas H, Yachnis A, Lee SY, Zhang X, Lyu Y, Stewart DR, Hirbe A, Blakeley JO, Serra E, Wallis D, Wallace MR.   +20 more
europepmc   +1 more source

Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense Mutations. [PDF]

MedComm (2020)
Kim S, Do H, Heo SH, Kang M, Hwang S, Kim D, Chang MH, Kim K, Lee BH.   +8 more
europepmc   +1 more source

Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis. [PDF]

Life (Basel)
Zedde M, Pascarella R.
europepmc   +1 more source

TEAD inhibitors synergize with MEK, SHP2 and mTOR inhibitors in NF1 and NF2 cell lines. [PDF]

MicroPubl Biol
Yang Y, Gurunathan S, Schechter S, Field J.   +3 more
europepmc   +1 more source

Neurofibromatosis Type 1: Genetic Mechanisms and Advances in Therapeutic Innovation. [PDF]

Cancers (Basel)
Lu Y, Xu M, Chen X, Xu H, Sun N, Weisgerber KE, Bai RY.   +6 more
europepmc   +1 more source

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study. [PDF]

Genes (Basel)
Idrissova Z, Rakhimbekova F, Orazgaliyeva M, Zhaksybek M, Kovaleva K, Abdikerim S, Ormankyzy A, Vasiluev P.   +7 more
europepmc   +1 more source

Ganglioneuroblastoma associated with neurofibromatosis type 1: a case report with a systematic review. [PDF]

Front Oncol
Zhang Q, Su S, Geng G, Bai Y, Hu W, Zhang W, Zhang H, Wang G.   +7 more
europepmc   +1 more source

Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene. [PDF]

Front Oncol
Idrissova Z, Orazgaliyeva M, Kovaleva K, Seilkhanova Z, Rakhimbekova F, Zhaksybek M, Myrzamuratova D.   +6 more
europepmc   +1 more source

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. [PDF]

Hum Reprod
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC.   +19 more
europepmc   +1 more source